Works matching Tangier disease
Results: 114
Tangier's disease: An uncommon cause of facial weakness and non-length dependent demyelinating neuropathy.
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- 2016
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- Publication type:
- Case Study
Tangier disease. A case with sensorimotor distal polyneuropathy and lipid accumulation in striated muscle and vasa nervorum.
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- Acta Neuropathologica, 1985, v. 67, n. 1/2, p. 121, doi. 10.1007/BF00688132
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- Article
Tangier disease: still more questions than answers.
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- Cellular & Molecular Life Sciences, 2005, v. 62, n. 19/20, p. 2150, doi. 10.1007/s00018-005-5125-0
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- Article
Characterization of Metalloelastase-Like Activity from the Plasma of a Patient with Tangier Disease.
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- Biological Chemistry, 1991, v. 372, n. 2, p. 1057
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- Article
Effects of miglustat treatment in a patient affected by an atypical form of Tangier Disease.
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- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 2, doi. 10.1186/s13023-014-0143-3
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- Article
Licht- und elektronenmikroskopische sowie cytometrische Untersuchungen an peripheren Nerven beim Morbus Tangier.
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- Acta Neuropathologica, 1979, v. 45, n. 1, p. 53, doi. 10.1007/BF00691805
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- Article
Nerve biopsy findings in two cases of Tangier disease.
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- Acta Neuropathologica, 1973, v. 26, n. 4, p. 317, doi. 10.1007/BF00688079
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- Article
Unusual Mild Phenotype Presentation in an Elderly Patient with Homozygous Tangier Disease.
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- 2024
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- Publication type:
- Case Study
Platelet activating factor levels and metabolism in tangier disease: a case study.
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- 2012
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- Publication type:
- Case Study
Association of a Novel Homozygous Variant in ABCA1 Gene with Tangier Disease.
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- Journal of Clinical Medicine, 2023, v. 12, n. 7, p. 2596, doi. 10.3390/jcm12072596
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- Article
Peripheral neuropathy in Tangier disease: A literature review and assessment.
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- Journal of the Peripheral Nervous System, 2018, v. 23, n. 2, p. 88, doi. 10.1111/jns.12265
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- Article
The Role of High Density Lipoproteins in Lecithin: Cholesterol Acyltransferase Activity: Perspectives from Tangier Disease.
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- Scandinavian Journal of Clinical & Laboratory Investigation, 1978, v. 38, n. s150, p. 98, doi. 10.1080/00365517809104907
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- Article
The clinical presentation and genetic diagnosis of Tangier disease in the pediatric age group.
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- Journal of Pediatric Endocrinology & Metabolism, 2025, v. 38, n. 3, p. 271, doi. 10.1515/jpem-2024-0335
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- Article
Tangier disease in a Turkish family.
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- Pediatrics International, 2014, v. 56, n. 5, p. 777, doi. 10.1111/ped.12306
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- Article
Wild Type and Tangier Disease ABCA1 Mutants Modulate Cellular Amyloid-β Production Independent of Cholesterol Efflux Activity.
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- Journal of Alzheimer's Disease, 2011, v. 27, n. 2, p. 441, doi. 10.3233/JAD-2011-110521
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- Article
The role of HDL in reverse cholesterol transport and its disturbances in Tangier disease and HDL deficiency with xanthomas.
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- European Heart Journal, 1990, v. 11, n. suppl_E, p. 197, doi. 10.1093/eurheartj/11.suppl_e.197
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- Article
Elevated complement activities of sera from patients with high density lipoprotein deficiency (Tangier disease): the presence of normal level of clusterin and the possible implication in the atherosclerosis.
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- Clinical & Experimental Immunology, 1993, v. 93, n. 2, p. 242
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- Article
Tangier Disease.
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- American Journal of Cardiovascular Drugs, 2012, v. 12, n. 5, p. 303, doi. 10.1007/BF03261839
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- Article
The Interaction between Nef Protein and ABCA1 Mutants in Tangier Disease.
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- Journal of Health Disparities Research & Practice, 2019, v. 12, n. 4, p. 30
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- Publication type:
- Article
Decreased Cholesterol Efflux from Fibroblasts of a Patient without Tangier Disease, but with Markedly Reduced High Density Lipoprotein Cholesterol Levels.
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- Journal of Clinical Endocrinology & Metabolism, 1998, v. 83, n. 3, p. 836, doi. 10.1210/jcem.83.3.4642
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- Article
A novel nonsense mutation in the ABC1 gene causes a severe syringomyelia-like phenotype of Tangier disease.
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- 2003
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- Publication type:
- journal article
A novel nonsense mutation in the ABC1 gene causes a severe syringomyelia-like phenotype of Tangier disease.
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- Brain: A Journal of Neurology, 2003, v. 126, n. 4, p. 920, doi. 10.1093/brain/awg074
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- Article
Tonsil with Tangier disease.
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- ENT: Ear, Nose & Throat Journal, 2003, v. 82, n. 3, p. 178, doi. 10.1177/014556130308200308
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- Publication type:
- Article
A Novel Mutation in ABCA1 Gene Causing Tangier Disease in an Italian Family with Uncommon Neurological Presentation.
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- Frontiers in Neurology, 2016, v. 7, p. 1, doi. 10.3389/fneur.2016.00185
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- Article
Effects of miglustat treatment in a patient affected by an atypical form of Tangier disease.
- Published in:
- 2014
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- Publication type:
- journal article
Clinical and electrophysiological characteristics of neuropathy associated with Tangier disease.
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- Journal of Neurology, 2012, v. 259, n. 6, p. 1222, doi. 10.1007/s00415-011-6340-2
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- Publication type:
- Article
Clinical variant of Tangier disease in Japan: mutation of the ABCA1 gene in hypoalphalipoproteinemia with corneal lipidosis.
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- Journal of Human Genetics, 2002, v. 47, n. 7, p. 366, doi. 10.1007/s100380200051
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- Publication type:
- Article
Double deletions and missense mutations in the first nucleotide-binding fold of the ATP-binding cassette transporter A1 (ABCA1) gene in Japanese patients with Tangier disease.
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- Journal of Human Genetics, 2002, v. 47, n. 6, p. 325, doi. 10.1007/s100380200044
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- Article
Coronary Heart Disease Prevalence and Other Clinical Features in Familial High-Density Lipoprotein Deficiency (Tangier Disease).
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- Annals of Internal Medicine, 1980, v. 93, n. 2, p. 261, doi. 10.7326/0003-4819-93-2-261
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- Article
Tangier disease with unusual clinical manifestations.
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- Clinical Genetics, 2003, v. 63, n. 4, p. 323, doi. 10.1034/j.1399-0004.2003.00056.x
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- Article
Tangier Disease.
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- Annals of Internal Medicine, 1961, v. 55, n. 6, p. 1016
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- Article
ABC1: The gene for Tangier disease and beyond.
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- Nutrition Reviews, 2000, v. 58, n. 3, p. 76
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- Article
Transport of lipids from Golgi to plasma membrane is defective in Tangier disease patients and Abc1-deficient mice.
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- Nature Genetics, 2000, v. 24, n. 2, p. 192, doi. 10.1038/72869
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- Article
Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency.
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- Nature Genetics, 1999, v. 22, n. 4, p. 336, doi. 10.1038/11905
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- Publication type:
- Article
The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease.
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- Nature Genetics, 1999, v. 22, n. 4, p. 347, doi. 10.1038/11914
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- Publication type:
- Article
Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1.
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- Nature Genetics, 1999, v. 22, n. 4, p. 352, doi. 10.1038/11921
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- Article
Assignment of Tangier disease to chromosome 9q31 by a graphical linkage exclusion strategy.
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- 1998
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- Publication type:
- Erratum
Assignment of Tangier disease to chromosome 9q31 by a graphical linkage exclusion strategy.
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- Nature Genetics, 1998, v. 20, n. 1, p. 96, doi. 10.1038/1770
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- Article
Sensory-motor not length-dependent multineuropathy followed by the syringomyelia-like phenotype: a novel presentation of Tangier disease.
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- 2022
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- Publication type:
- Case Study
Rare health conditions 10: Tangier disease, glioblastoma multiforme, Feingold syndrome.
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- British Journal of Healthcare Assistants, 2018, v. 12, n. 3, p. 118, doi. 10.12968/bjha.2018.12.3.118
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- Article
Endoneurial ATPase activity in tangier disease and other peripheral neuropathies.
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- Muscle & Nerve, 1984, v. 7, n. 6, p. 447, doi. 10.1002/mus.880070606
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- Publication type:
- Article
Nerve high-resolution ultrasonography in tangier disease.
- Published in:
- 2019
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- Publication type:
- journal article
Haemolytic anaemia in analpha-lipoproteinaemia (Tangier disease): morphological, biochemical, and biophysical properties of the red blood cell.
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- British Journal of Haematology, 1989, v. 72, n. 2, p. 272, doi. 10.1111/j.1365-2141.1989.tb07694.x
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- Article
Wild type and Tangier disease ABCA1 mutants modulate cellular amyloid-β production independent of cholesterol efflux activity.
- Published in:
- 2011
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- Publication type:
- journal article
Early-onset atherosclerosis in a patient with Tangier disease: Not all that is gold glitters.
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- Polish Heart Journal / Kardiologia Polska, 2023, v. 81, n. 4, p. 421, doi. 10.33963/KP.a2023.0061
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- Publication type:
- Article
ABC1: the gene for Tangier disease and beyond.
- Published in:
- 2000
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- Publication type:
- Journal Article
Neuropathy in Tangier disease: A clinicopathologic study and a review of the literature.
- Published in:
- Acta Neurologica Scandinavica, 1985, v. 72, n. 5, p. 495, doi. 10.1111/j.1600-0404.1985.tb00907.x
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- Publication type:
- Article
Digestive tract involvement in an infant and a child with Tangier disease.
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- 1998
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- Publication type:
- journal article
Tangierská nemoc v rodině s fenotypem familiární hypercholesterolemie.
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- Internal Medicine / Vnitrni Lekarstvi, 2020, v. 66, n. 7, p. 443
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- Publication type:
- Article
HDL deficiency and atherosclerosis: lessons from Tangier disease.
- Published in:
- 2004
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- Publication type:
- Case Study